Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs796051881
rs796051881
PEX5
9 0.807 0.440 12 7202274 frameshift variant -/A delins 0.700 1.000 1 2015 2015
dbSNP: rs1057518848
rs1057518848
TCF4
15 0.827 0.240 18 55229003 frameshift variant -/ATTG delins 0.700 0
dbSNP: rs796052056
rs796052056
TMEM70
3 0.882 0.240 8 73976397 frameshift variant -/GT delins 0.700 1.000 3 2008 2014
dbSNP: rs1553655558
rs1553655558
TRIP12
43 0.752 0.360 2 229830831 frameshift variant A/- delins 0.700 0
dbSNP: rs869025318
rs869025318
UNC80
4 0.925 0.160 2 209820379 frameshift variant A/- delins 0.700 0
dbSNP: rs387906739
rs387906739
DYNC1H1 ; LOC107984661
3 0.882 0.200 14 102039416 missense variant A/C snv 0.010 1.000 1 2012 2012
dbSNP: rs1555103652
rs1555103652
GRIN2B
11 0.882 0.240 12 13569973 missense variant A/C snv 0.700 0
dbSNP: rs782393002
rs782393002
HUWE1
6 0.882 0.280 X 53549413 missense variant A/C;G snv 1.1E-05 0.700 0
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs794729668
rs794729668
FUZ ; MED25
2 0.925 0.160 19 49818457 missense variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs797045036
rs797045036
TRNT1 ; CRBN
2 0.925 0.160 3 3151023 missense variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs753520553
rs753520553
NAGLU
10 0.851 0.280 17 42537433 missense variant A/G snv 3.2E-05 2.1E-05 0.700 0
dbSNP: rs1223073957
rs1223073957
MED25
12 0.827 0.240 19 49835897 frameshift variant C/- delins 1.2E-05 1.4E-05 0.700 0
dbSNP: rs878853325
rs878853325
PPT1
6 0.851 0.240 1 40089414 frameshift variant C/- delins 0.700 0
dbSNP: rs1251713297
rs1251713297
PRMT7
15 0.776 0.360 16 68355785 stop gained C/A snv 8.1E-06 0.700 0
dbSNP: rs397514627
rs397514627
CAMK2G
5 0.882 0.160 10 73842486 missense variant C/A;G snv 0.710 1.000 1 2018 2018
dbSNP: rs200115000
rs200115000
CAMK2B
2 1.000 0.160 7 44220165 missense variant C/A;G;T snv 2.6E-04; 5.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs1554150607
rs1554150607
MEF2C
2 0.925 0.160 5 88823786 start lost C/G snv 0.700 1.000 4 2009 2013
dbSNP: rs1556910184
rs1556910184
HUWE1
4 0.882 0.240 X 53534615 missense variant C/G snv 0.700 0
dbSNP: rs1557024919
rs1557024919
HUWE1
7 0.925 0.240 X 53634235 splice donor variant C/G snv 0.700 0
dbSNP: rs63485860
rs63485860
MECP2
1 1.000 0.160 X 154031211 missense variant C/G;T snv 2.2E-05 0.010 1.000 1 2007 2007
dbSNP: rs1325394060
rs1325394060
HUWE1
9 0.851 0.320 X 53534144 missense variant C/G;T snv 9.5E-06 0.700 0
dbSNP: rs1554691658
rs1554691658
PTCH1
11 0.807 0.240 9 95459653 frameshift variant C/GGGTCCACAACATCT delins 0.700 0
dbSNP: rs1553630279
rs1553630279
CTNNB1
7 0.807 0.160 3 41225049 stop gained C/T snv 0.700 1.000 3 1989 2017
dbSNP: rs1554041295
rs1554041295
ZSWIM6
2 0.925 0.160 5 61541917 stop gained C/T snv 0.700 1.000 1 2017 2017